Genetics of bone biology and skeletal disease / edited by Rajesh V. Thakker [and 3 others]
"[This book] is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling...
Saved in:
| Online Access: |
Full Text (via ScienceDirect) |
|---|---|
| Other Authors: | |
| Format: | eBook |
| Language: | English |
| Published: |
London ; Waltham, MA :
Academic Press,
[2018]
|
| Edition: | Second edition. |
| Subjects: |
MARC
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| 245 | 0 | 0 | |a Genetics of bone biology and skeletal disease / |c edited by Rajesh V. Thakker [and 3 others] |
| 250 | |a Second edition. | ||
| 264 | 1 | |a London ; |a Waltham, MA : |b Academic Press, |c [2018] | |
| 264 | 4 | |c ©2018. | |
| 300 | |a 1 online resource. | ||
| 336 | |a text |b txt |2 rdacontent. | ||
| 337 | |a computer |b c |2 rdamedia. | ||
| 338 | |a online resource |b cr |2 rdacarrier. | ||
| 504 | |a Includes bibliographical references and index. | ||
| 520 | |a "[This book] is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets."--Website publisher. | ||
| 588 | 0 | |a Online resource; title from PDF title page (EBSCO, viewed November 7, 2017) | |
| 650 | 0 | |a Bones |x Diseases |x Genetic aspects. |0 http://id.loc.gov/authorities/subjects/sh85015546. | |
| 650 | 7 | |a Bones |x Diseases |x Genetic aspects. |2 fast |0 (OCoLC)fst00836010. | |
| 655 | 0 | |a Electronic book. | |
| 700 | 1 | |a Thakker, R. V., |e editor. |0 http://id.loc.gov/authorities/names/nb97080179 |1 http://isni.org/isni/0000000043387365. | |
| 776 | 0 | 8 | |i Print version: |t Genetics of bone biology and skeletal disease. |b Second edition. |d London ; Waltham, MA : Academic Press, [2018] |z 012804182X |z 9780128041826 |w (OCoLC)960895665. |
| 856 | 4 | 0 | |u https://colorado.idm.oclc.org/login?url=https://www.sciencedirect.com/science/book/9780128041826 |z Full Text (via ScienceDirect) |
| 880 | 0 | |6 505-00/(S |a 1: GENERAL BACKGROUND TO GENETICS -- Chapter 2 -- Epigenetics -- Chapter 3 -- Genome-Wide Association Studies -- Chapter 4 -- Copy Number Variation -- Chapter 5 -- Genomic Profiling in Bone -- Chapter 6 -- Functional Genomics -- Chapter 7 -- Mouse Models: Approaches to Generate In Vivo Models for Hereditary Disorders of Mineral and Skeletal Homeostasis -- Chapter 8 -- Prospects of Gene Therapy for Skeletal Diseases -- Chapter 9 -- Pharmacogenetics and Pharmacogenomics of Osteoporosis: Personalized Medicine Outlook -- Chapter 10 -- Genetic Testing and Counseling -- 2: GENERAL BACKGROUND TO BONE BIOLOGY -- Chapter 11 -- Biology of Bone and Cartilage -- Chapter 12 -- Overview of Bone Structure and Strength -- Chapter 13 -- Overview of Joint and Cartilage Biology -- Chapter 14 -- Osteocyte Biology -- Chapter 15 -- Skeletal Stem Cells/Bone Marrow Stromal Cells -- Chapter 16 -- Osteoimmunology -- Chapter 17 -- Integrating Endocrine and Paracrine Influences on Bone; Lessons From Parathyroid Hormone and Parathyroid Hormone-Related Protein -- Chapter 18 -- Genetics of Bone Fat and Energy Regulation -- Chapter 19 -- The Cross Talk Between the Central Nervous System, Bone, and Energy Metabolism -- Chapter 20 -- Fetal Control of Calcium and Phosphate Homeostasis -- Chapter 21 -- Control of Mineral and Skeletal Homeostasis During Pregnancy and Lactation -- Chapter 22 -- Osteoporosis Genes Identified by Genome-Wide Association Studies -- Chapter 23 -- Osteogenesis Imperfecta -- Chapter 24 -- Osteoarthritis: Genetic Studies of Monogenic and Complex Forms -- Chapter 25 -- Genetics of Paget's Disease of Bone -- Chapter 26 -- Mendelian Disorders of RANKL/OPG/RANK/NF-κB Signaling -- Chapter 27 -- Skeletal Dysplasias -- Chapter 28 -- Hypophosphatasia and How Alkaline Phosphatase Promotes Mineralization -- Chapter 29 -- Sclerosing Bone Disorders -- Chapter 30 -- Fibrodysplasia (Myositis) Ossificans Progressiva -- Chapter 31 -- Thyroid Hormone in Bone and Joint Disorders -- Chapter 32 -- Disorders and Mechanisms of Ectopic Calcification -- 4: PARATHYROID AND RELATED DISORDERS -- Chapter 33 -- Hyperparathyroidism -- Chapter 34 -- Hypoparathyroidism -- Chapter 35 -- Gsα, Pseudohypoparathyroidism, Fibrous Dysplasia, and McCune-Albright Syndrome -- Chapter 36 -- Genetic Disorders Caused by Mutations in the PTH/PTHrP Receptor, its Ligands, and Downstream Effector Molecules -- Chapter 37 -- Genetically Determined Disorders of Extracellular Calcium (Cao2+) Sensing and Cao2+ Homeostasis -- Chapter 38 -- Multiple Endocrine Neoplasia Syndromes -- 5: VITAMIN D AND RENAL DISORDERS -- Chapter 39 -- Genetic Disorders Of Vitamin D Synthesis and Action -- Chapter 40 -- Heritable Renal Phosphate Wasting Disorders -- Chapter 41 -- Renal Fanconi Syndrome, Dent Disease, and Bartter Syndrome -- Chapter 42 -- Inherited Magnesium Disorders -- Chapter 43 -- Genetic Hypercalciuria: A Major Risk Factor in Kidney Stones. | |
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